COL1A1-related Ehlers-Danlos syndrome

COL1A1-related Ehlers-Danlos syndrome is a type of Ehlers-Danlos syndrome caused by a variant in the COL1A1 gene. This condition can include features of both classic and arthrochalasia types of Ehlers-Danlos syndrome as well as elements combined with osteogenesis imperfecta and Ehlers-Danlos syndrome. People with this condition may have symptoms that overlap with different types of connective tissue disorders. The variety in presentation highlights the genetic complexity of the disorder as it stems from changes in the COL1A1 gene.

Information about symptoms is currently limited for this condition.

The condition is caused by a variant in the COL1A1 gene. This genetic change leads to the development of features seen in different types of Ehlers-Danlos syndrome, including classic and arthrochalasia types, and may include overlap with osteogenesis imperfecta.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.